SBDS and Shwachman-Diamond syndrome: The detected genes were LIPA and SBDS, CPT II, ANO5, and NKX2-5 which are the genes responsible for cholesteryl-ester storage disease, Schwachman-Diamond syndrome, carnitine palmitoyl transferase II deficiency, muscle disease (Limb-girdle muscular dystrophy type 2L and Miyoshi muscular dystrophy 3) and congenital heart disease, respectively.